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Mucolipidosis

MedGen UID:: 7731
•Concept ID:: C0026697
•: Disease or Syndrome

Synonym:	Mucolipidoses
SNOMED CT:	Mucolipidosis (70528007)

Monarch Initiative:	MONDO:0019248
Orphanet:	ORPHA79212

Definition

A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations. [from NCI]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMucolipidosis

Disease
- Non-Neoplastic Disorder
  - Non-Neoplastic Disorder by Special Category
    - Metabolic disease
      - Carbohydrate metabolism disease
        Inborn carbohydrate metabolic disorder
        Mucolipidosis
        Deficiency of N-acetylglucosamine-1-phosphotransferase
        GNPTG-mucolipidosis
        Mucolipidosis type II
        Mucolipidosis Type IIIA
        Mucolipidosis type IV
        Sialidosis
        Sialidosis type 1
        Sialidosis type 2
        Congenital sialidosis type 2
        Juvenile sialidosis type 2

Follow this link to review classifications for Mucolipidosis in Orphanet.

Professional guidelines

PubMed

Differential diagnosis portfolio of a pediatric rheumatologist: eight cases, eight stories.

Çakan M, Karadağ ŞG, Ayaz NA
Clin Rheumatol 2021 Feb;40(2):769-774. Epub 2020 Jul 12 doi: 10.1007/s10067-020-05287-x. PMID: 32656661

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.

Chien YH, Lee NC, Chen PW, Yeh HY, Gelb MH, Chiu PC, Chu SY, Lee CH, Lee AR, Hwu WL
Orphanet J Rare Dis 2020 Feb 3;15(1):38. doi: 10.1186/s13023-020-1322-z. PMID: 32014045 Free PMC Article

Early prenatal diagnosis of mucolipidosis IV.

Ornoy A, Arnon J, Grebner EE, Jackson LG, Bach G
Am J Med Genet 1987 Aug;27(4):983-5. doi: 10.1002/ajmg.1320270429. PMID: 3425607

See all (27)

Recent clinical studies

Etiology

Lysosomal storage diseases.

Burlina AP, Manara R, Gueraldi D
Handb Clin Neurol 2024;204:147-172. doi: 10.1016/B978-0-323-99209-1.00008-9. PMID: 39322377

The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection.

Richards CM, Jabs S, Qiao W, Varanese LD, Schweizer M, Mosen PR, Riley NM, Klüssendorf M, Zengel JR, Flynn RA, Rustagi A, Widen JC, Peters CE, Ooi YS, Xie X, Shi PY, Bartenschlager R, Puschnik AS, Bogyo M, Bertozzi CR, Blish CA, Winter D, Nagamine CM, Braulke T, Carette JE
Science 2022 Oct 7;378(6615):eabn5648. doi: 10.1126/science.abn5648. PMID: 36074821 Free PMC Article

Structures of the mannose-6-phosphate pathway enzyme, GlcNAc-1-phosphotransferase.

Gorelik A, Illes K, Bui KH, Nagar B
Proc Natl Acad Sci U S A 2022 Aug 16;119(33):e2203518119. Epub 2022 Aug 8 doi: 10.1073/pnas.2203518119. PMID: 35939698 Free PMC Article

Structural insights into group II TRP channels.

Fine M, Li X, Dang S
Cell Calcium 2020 Mar;86:102107. Epub 2019 Nov 22 doi: 10.1016/j.ceca.2019.102107. PMID: 31841954

Transient Receptor Potential (TRP) Channels.

Samanta A, Hughes TET, Moiseenkova-Bell VY
Subcell Biochem 2018;87:141-165. doi: 10.1007/978-981-10-7757-9_6. PMID: 29464560 Free PMC Article

See all (213)

Diagnosis

Mucolipidoses Overview: Past, Present, and Future.

Khan SA, Tomatsu SC
Int J Mol Sci 2020 Sep 17;21(18) doi: 10.3390/ijms21186812. PMID: 32957425 Free PMC Article

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series.

Jezela-Stanek A, Ciara E, Stepien KM
Int J Mol Sci 2020 Jun 26;21(12) doi: 10.3390/ijms21124564. PMID: 32604955 Free PMC Article

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Diñeiro M, Capín R, Cifuentes GÁ, Fernández-Vega B, Villota E, Otero A, Santiago A, Pruneda PC, Castillo D, Viejo-Díaz M, Hernando I, Durán NS, Álvarez R, Lago CG, Ordóñez GR, Fernández-Vega Á, Cabanillas R, Cadiñanos J
Acta Ophthalmol 2020 Dec;98(8):e1034-e1048. Epub 2020 Jun 1 doi: 10.1111/aos.14479. PMID: 32483926 Free PMC Article

TRPML3.

Grimm C, Barthmes M, Wahl-Schott C
Handb Exp Pharmacol 2014;222:659-74. doi: 10.1007/978-3-642-54215-2_26. PMID: 24756725

Mucolipidosis IV.

Goutières F, Arsenio-Nunes ML, Aicardi J
Neuropadiatrie 1979 Nov;10(4):321-31. doi: 10.1055/s-0028-1085335. PMID: 231746

See all (308)

Therapy

AAV-mediated gene therapy for sialidosis.

van de Vlekkert D, Hu H, Weesner JA, Fremuth LE, Brown SA, Lu M, Gomero E, Campos Y, Sheppard H, d'Azzo A
Mol Ther 2024 Jul 3;32(7):2094-2112. Epub 2024 May 25 doi: 10.1016/j.ymthe.2024.05.029. PMID: 38796704 Free PMC Article

Gene therapy corrects the neurological deficits of mice with sialidosis.

Hwu WL, Chang K, Liu YH, Wang HC, Lee NC, Chien YH
Gene Ther 2024 May;31(5-6):263-272. Epub 2024 Feb 7 doi: 10.1038/s41434-024-00443-3. PMID: 38321198

A genome-wide CRISPR screen identifies N-acetylglucosamine-1-phosphate transferase as a potential antiviral target for Ebola virus.

Flint M, Chatterjee P, Lin DL, McMullan LK, Shrivastava-Ranjan P, Bergeron É, Lo MK, Welch SR, Nichol ST, Tai AW, Spiropoulou CF
Nat Commun 2019 Jan 17;10(1):285. doi: 10.1038/s41467-018-08135-4. PMID: 30655525 Free PMC Article

Transient neonatal hyperparathyroidism: a presenting feature of mucolipidosis type II.

Sathasivam A, Garibaldi L, Murphy R, Ibrahim J
J Pediatr Endocrinol Metab 2006 Jun;19(6):859-62. doi: 10.1515/jpem.2006.19.6.859. PMID: 16886594

Neonatal mucolipidosis 2. The spontaneous evolution of early bone lesions and the effect of vitamin D treatment. Report of two cases.

Pazzaglia UE, Beluffi G, Danesino C, Frediani PV, Pagani G, Zatti G
Pediatr Radiol 1989;20(1-2):80-4. doi: 10.1007/BF02010640. PMID: 2602022

See all (18)

Prognosis

Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect.

Al-Alawi B, Harikrishna B, Al-Thihli K, Al Zuhabi S, Ganesh A, Al Hashami Z, Al Dhamhmani Z, Zadjali R, Al Riyami NB, Zadjali F
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020248. PMID: 35205297 Free PMC Article

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.

Chien YH, Lee NC, Chen PW, Yeh HY, Gelb MH, Chiu PC, Chu SY, Lee CH, Lee AR, Hwu WL
Orphanet J Rare Dis 2020 Feb 3;15(1):38. doi: 10.1186/s13023-020-1322-z. PMID: 32014045 Free PMC Article

A neonate with mucolipidosis II and transient secondary hyperparathyroidism.

Leyva C, Buch M, J Wierenga K, Berkovitz G, Seeherunvong T
J Pediatr Endocrinol Metab 2019 Dec 18;32(12):1399-1402. doi: 10.1515/jpem-2019-0162. PMID: 31758855

Mucopolysaccharidosis VI.

Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007 Free PMC Article

I-cell disease (Mucolipidosis II).

Kabra M, Gulati S, Kaur M, Sharma J, Singh A, Chopra V, Menon PS, Kalra V
Indian J Pediatr 2000 Sep;67(9):683-7. doi: 10.1007/BF02762185. PMID: 11028124

See all (72)

Clinical prediction guides

Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect.

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.

Chien YH, Lee NC, Chen PW, Yeh HY, Gelb MH, Chiu PC, Chu SY, Lee CH, Lee AR, Hwu WL
Orphanet J Rare Dis 2020 Feb 3;15(1):38. doi: 10.1186/s13023-020-1322-z. PMID: 32014045 Free PMC Article

Sleep-disordered breathing in children with mucolipidosis.

Tabone L, Caillaud C, Amaddeo A, Khirani S, Michot C, Couloigner V, Brassier A, Cormier-Daire V, Baujat G, Fauroux B
Am J Med Genet A 2019 Jul;179(7):1196-1204. Epub 2019 Apr 30 doi: 10.1002/ajmg.a.61167. PMID: 31038846

A Lifetime of Adventures in Glycobiology.

Kornfeld S
Annu Rev Biochem 2018 Jun 20;87:1-21. doi: 10.1146/annurev-biochem-062917-011911. PMID: 29925256

Mucolipin controls lysosome exocytosis in Dictyostelium.

Lima WC, Leuba F, Soldati T, Cosson P
J Cell Sci 2012 May 1;125(Pt 9):2315-22. Epub 2012 Feb 22 doi: 10.1242/jcs.100362. PMID: 22357942

See all (130)

Recent systematic reviews

Mucolipidosis type II and type III: a systematic review of 843 published cases.

Dogterom EJ, Wagenmakers MAEM, Wilke M, Demirdas S, Muschol NM, Pohl S, Meijden JCV, Rizopoulos D, Ploeg ATV, Oussoren E
Genet Med 2021 Nov;23(11):2047-2056. Epub 2021 Jun 25 doi: 10.1038/s41436-021-01244-4. PMID: 34172897

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.

Pantel JT, Zhao M, Mensah MA, Hajjir N, Hsieh TC, Hanani Y, Fleischer N, Kamphans T, Mundlos S, Gurovich Y, Krawitz PM
J Inherit Metab Dis 2018 May;41(3):533-539. Epub 2018 Apr 5 doi: 10.1007/s10545-018-0174-3. PMID: 29623569 Free PMC Article

Decreased T2 signal in the thalami may be a sign of lysosomal storage disease.

Autti T, Joensuu R, Aberg L
Neuroradiology 2007 Jul;49(7):571-8. Epub 2007 Mar 3 doi: 10.1007/s00234-007-0220-6. PMID: 17334752

See all (3)

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Mucolipidosis

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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Table of contents

Genetic Testing Registry

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Practice guidelines

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